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Results: 9
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Genetic Association Analysis of 77,539 Genomes Reveals Rare Disease Etiologies.
Daniel,Greene; Daniela,Pirri; Karen,Frudd; Ege,Sackey; Mohammed,Al-Owain; Arnaud P J,Giese; Khushnooda,Ramzan; Sehar,Riaz; Itaru,Yamanaka; Nele,Boeckx; Chantal,Thys; Bruce D,Gelb; Paul,Brennan; Verity,Hartill; Julie,Harvengt
The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on...
Humans Rare Diseases Membrane Proteins Bayes Theorem Genotype Phenotype Genome-Wide Association Study
Published by: Nature medicine
Published on: Apr 17, 2023
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Extensive Sequence Duplication in Arabidopsis Revealed by Pseudo-Heterozygosity.
Benjamin,Jaegle; Rahul,Pisupati; Luz Mayela,Soto-Jiménez; Robin,Burns; Fernando A,Rabanal; Magnus,Nordborg
Methylation Gene Duplication Structural Variation Gwas Snp Calling Humans Arabidopsis Sequence Analysis Dna Polymorphism Single Nucleotide Genome Plant Genome-Wide Association Study Dna Copy Number Variations
Published by: Genome biology
Published on: Apr 09, 2023
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Genome-Wide Genotype-Serum Proteome Mapping Provides Insights Into the Cross-Ancestry Differences in Cardiometabolic Disease Susceptibility.
Fengzhe,Xu; Evan Yi-Wen,Yu; Xue,Cai; Liang,Yue; Li-Peng,Jing; Xinxiu,Liang; Yuanqing,Fu; Zelei,Miao; Min,Yang; Menglei,Shuai; Wanglong,Gou; Congmei,Xiao; Zhangzhi,Xue; Yuting,Xie; Sainan,Li
Identification of protein quantitative trait loci (pQTL) helps understand the underlying mechanisms of diseases and discover promising targets for pharmacological intervention. For most important class of drug targets, genetic...
Humans Cardiovascular Diseases Genetic Predisposition To Disease Proteome Genotype Phenotype Polymorphism Single Nucleotide Genome-Wide Association Study
Published by: Nature Communications
Published on: Mar 19, 2023
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Mapping Gene by Early Life Stress Interactions on Child Subcortical Brain Structures a Genome-Wide Prospective Study.
Koen,Bolhuis; Rosa H,Mulder; Casper Louk,de Mol; Serena,Defina; Varun,Warrier; Tonya,White; Henning,Tiemeier; Ryan L,Muetzel; Charlotte A M,Cecil
Mri Psychopathology Genome-Wide Association Study Gene-Environment Interaction Early Life Stress
Published by: JCPP advances
Published on: Mar 16, 2023
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Genome-Wide Host-Pathogen Analyses Reveal Genetic Interaction Points in Tuberculosis Disease.
Jody,Phelan; Paula Josefina,Gomez-Gonzalez; Nuria,Andreu; Yosuke,Omae; Licht,Toyo-Oka; Hideki,Yanai; Reiko,Miyahara; Supalert,Nedsuwan; Paola Florez,de Sessions; Susana,Campino; Neneh,Sallah; Julian,Parkhill; Nat,Smittipat; Prasit,Palittapongarnpim; Taisei,Mushiroda
Humans Mycobacterium Tuberculosis Tuberculosis Phylogeny Genome Host-Pathogen Interactions Genome-Wide Association Study
Published by: Nature Communications
Published on: Mar 05, 2023
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Finngen Provides Genetic Insights from a Well-Phenotyped Isolated Population.
Mitja I,Kurki; Juha,Karjalainen; Priit,Palta; Timo P,Sipilä; Kati,Kristiansson; Kati M,Donner; Mary P,Reeve; Hannele,Laivuori; Mervi,Aavikko; Mari A,Kaunisto; Anu,Loukola; Elisa,Lahtela; Hannele,Mattsson; Päivi,Laiho; Pietro,Della Briotta Parolo
Humans Disease Genetic Predisposition To Disease Gene Frequency Phenotype Middle Aged Estonia Finland Meta-Analysis As Topic Genome-Wide Association Study United Kingdom White People
Published by: Nature
Published on: Feb 19, 2023
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Genetic Association Study of Childhood Aggression Across Raters, Instruments, and Age.
Hill F,Ip; Camiel M,van der Laan; Eva M L,Krapohl; Isabell,Brikell; Cristina,Sánchez-Mora; Ilja M,Nolte; Beate,St Pourcain; Koen,Bolhuis; Teemu,Palviainen; Hadi,Zafarmand; Lucía,Colodro-Conde; Scott,Gordon; Tetyana,Zayats; Fazil,Aliev; Chang,Jiang
Humans Retrospective Studies Aggression Mental Disorders Adolescent Child Child Preschool Infant Female Genome-Wide Association Study Genetic Association Studies
Published by: Translational psychiatry
Published on: Aug 31, 2021
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Cross-Ancestry Gwas Meta-Analysis Identifies Six Breast Cancer Loci in African and European Ancestry Women.
Babatunde,Adedokun; Zhaohui,Du; Guimin,Gao; Thomas U,Ahearn; Kathryn L,Lunetta; Gary,Zirpoli; Jonine,Figueroa; Esther M,John; Leslie,Bernstein; Wei,Zheng; Jennifer J,Hu; Regina G,Ziegler; Sarah,Nyante; Elisa V,Bandera; Sue A,Ingles
Our study describes breast cancer risk loci using a cross-ancestry GWAS approach. We first identify variants that are associated with breast cancer at P < 0.05 from African ancestry GWAS meta-analysis (9241 cases and 10193...
Humans Breast Neoplasms Genetic Predisposition To Disease Polymorphism Single Nucleotide Quantitative Trait Loci Introns African Continental Ancestry Group European Continental Ancestry Group Female Genome-Wide Association Study
Published by: Nature Communications
Published on: Aug 11, 2021
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From Single-Snp to Wide-Locus: Genome-Wide Association Studies Identifying Functionally Related Genes and Intragenic Regions in Small Sample Studies
Knut M,Wittkowski; Vikas,Sonakya; Tingting,Song; Martin P,Seybold; Mehdi,Keddache; Martina,Durner
Background: Genome Wide Association Studies (GWAS) have had limited success when applied to complex diseases. Analyzing SNPs individually requires several large studies to integrate the often divergent results. In the presence...
Common Disease Epilepsy Epistasis Genome-Wide Association Study Gwas Phase Iii Trials Ras-Pathway U-Statistics Life Sciences
Published by: Future Medicine